Genomic profiling of late-onset basal cell carcinomas from two brothers with nevoid basal cell carcinoma syndrome.
Omar Hasan AliA A YurchenkoO PavlovaA SartoriD BomzeR HigginsS S RingF HartmannD BühlerF R FritzscheW JochumAlexander A NavariniA KimL E FrenchE DermitzakisA M ChristianoD HohlD R BickersS I NikolaevL FlatzPublished in: Journal of the European Academy of Dermatology and Venereology : JEADV (2020)
Our data suggest that a sequence of three genetic hits leads to the late development of BCCs in two brothers with NBCCS: a hypomorphic germline mutation, followed by somatic LOH and additional mutations that complete PTCH1 inactivation. These genetic events are in line with the late occurrence of the first BCC and with the higher number of damaging PTCH1 mutations compared to usual cases of NBCCS.